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Expanding the phenotype for the recurrent p.Ala391Glu variant in FGFR3: Beyond crouzon syndrome and acanthosis nigricans

BACKGROUND: Craniosynostosis, or premature fusion of the skull sutures, is a group of disorders that can present in isolation (nonsyndromic) or be associated with other anomalies (syndromic). Delineation of syndromic craniosynostosis is confounded due to phenotypic overlap, variable expression as we...

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Dettagli Bibliografici
Pubblicato in:Mol Genet Genomic Med
Autori principali: Rymer, Karen, Shiang, Rita, Hsiung, Anting, Pandya, Arti, Bigdeli, Tim, Webb, Bradley T., Rhodes, Jennifer
Natura: Artigo
Lingua:Inglês
Pubblicazione: John Wiley and Sons Inc. 2019
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6565579/
https://ncbi.nlm.nih.gov/pubmed/31016899
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.656
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